{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T03:04:34Z","timestamp":1787799874359,"version":"build-2784847793"},"reference-count":45,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Fund for Scientific Research Flanders (FWO)"},{"DOI":"10.13039\/100007372","name":"the Association Belge contre les Maladies neuro-Musculaires","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007372","id-type":"DOI","asserted-by":"crossref"}]},{"name":"the Association Fran\u00e7aise contre les Myopathies"},{"name":"the Frick Foundation for Amyotrophic Lateral Sclerosis Research"},{"name":"the Muscular Dystrophy Association"},{"name":"the European Community's Health Seventh Framework Program","award":["259867"],"award-info":[{"award-number":["259867"]}]},{"name":"Latran Foundation"},{"name":"Agency for Innovation by Science and Technology in Flanders (IWT-Vlaanderen)"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The International Journal of Biochemistry &amp; Cell Biology"],"published-print":{"date-parts":[[2012,8]]},"DOI":"10.1016\/j.biocel.2012.04.020","type":"journal-article","created":{"date-parts":[[2012,4,30]],"date-time":"2012-04-30T23:50:31Z","timestamp":1335829831000},"page":"1299-1304","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"title":["Charcot-Marie-Tooth disease: Emerging mechanisms and therapies"],"prefix":"10.1016","volume":"44","author":[{"given":"Constantin","family":"d\u2019Ydewalle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronick","family":"Benoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludo","family":"Van Den Bosch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"17","key":"10.1016\/j.biocel.2012.04.020_bib0005","doi-asserted-by":"crossref","first-page":"12778","DOI":"10.1074\/jbc.M109.082644","article-title":"Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy","volume":"285","author":"Almeida-Souza","year":"2010","journal-title":"Journal of Biological Chemistry"},{"issue":"43","key":"10.1016\/j.biocel.2012.04.020_bib0010","doi-asserted-by":"crossref","first-page":"15320","DOI":"10.1523\/JNEUROSCI.3266-11.2011","article-title":"Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy","volume":"31","author":"Almeida-Souza","year":"2011","journal-title":"Journal of Neuroscience"},{"issue":"1","key":"10.1016\/j.biocel.2012.04.020_bib0015","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1146\/annurev.genom.9.081307.164204","article-title":"The role of aminoacyl-tRNA synthetases in genetic diseases","volume":"9","author":"Antonellis","year":"2008","journal-title":"Annual Review of Genomics and Human Genetics"},{"issue":"41","key":"10.1016\/j.biocel.2012.04.020_bib0020","doi-asserted-by":"crossref","first-page":"10397","DOI":"10.1523\/JNEUROSCI.1671-06.2006","article-title":"Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons","volume":"26","author":"Antonellis","year":"2006","journal-title":"Journal of Neuroscience"},{"issue":"2","key":"10.1016\/j.biocel.2012.04.020_bib0025","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1523\/JNEUROSCI.4798-06.2007","article-title":"Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from Mitofusin 2 mutations","volume":"27","author":"Baloh","year":"2007","journal-title":"The Journal of Neuroscience"},{"issue":"Pt 3","key":"10.1016\/j.biocel.2012.04.020_bib0030","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1111\/j.1469-1809.2007.00412.x","article-title":"Charcot-Marie-Tooth disease: a clinico-genetic confrontation","volume":"72","author":"Barisic","year":"2008","journal-title":"Annals of Human Genetics"},{"issue":"Pt 5","key":"10.1016\/j.biocel.2012.04.020_bib0035","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1093\/brain\/awq082","article-title":"Expression of Mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A","volume":"133","author":"Cartoni","year":"2010","journal-title":"Brain"},{"issue":"5","key":"10.1016\/j.biocel.2012.04.020_bib0225","doi-asserted-by":"crossref","first-page":"e10848","DOI":"10.1371\/journal.pone.0010848","article-title":"HDAC6 regulates mitochondrial transport in hippocampal neurons","volume":"5","author":"Chen","year":"2010","journal-title":"PLoS One"},{"issue":"27","key":"10.1016\/j.biocel.2012.04.020_bib0040","doi-asserted-by":"crossref","first-page":"18753","DOI":"10.1074\/jbc.M602452200","article-title":"PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4","volume":"281","author":"Cuajungco","year":"2006","journal-title":"The Journal of Biological Chemistry"},{"issue":"8","key":"10.1016\/j.biocel.2012.04.020_bib0045","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1038\/nm.2396","article-title":"HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease","volume":"17","author":"d\u2019Ydewalle","year":"2011","journal-title":"Nature Medicine"},{"key":"10.1016\/j.biocel.2012.04.020_bib0050","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1146\/annurev.neuro.31.061307.090711","article-title":"Role of axonal transport in neurodegenerative diseases","volume":"31","author":"de Vos","year":"2008","journal-title":"Annual Review of Neuroscience"},{"issue":"2","key":"10.1016\/j.biocel.2012.04.020_bib0055","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.neuron.2006.08.018","article-title":"Rab5 and Rab7 control endocytic sorting along the axonal retrograde transport pathway","volume":"52","author":"Deinhardt","year":"2006","journal-title":"Neuron"},{"issue":"13","key":"10.1016\/j.biocel.2012.04.020_bib0060","doi-asserted-by":"crossref","first-page":"2616","DOI":"10.1093\/hmg\/ddq149","article-title":"Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E","volume":"19","author":"Dequen","year":"2010","journal-title":"Human Molecular Genetics"},{"issue":"3","key":"10.1016\/j.biocel.2012.04.020_bib0065","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/ddm314","article-title":"Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A","volume":"17","author":"Detmer","year":"2008","journal-title":"Human Molecular Genetics"},{"issue":"4","key":"10.1016\/j.biocel.2012.04.020_bib0070","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1046\/j.1471-4159.1998.71041765.x","article-title":"Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells","volume":"71","author":"D\u00e9sarnaud","year":"1998","journal-title":"Journal of Neurochemistry"},{"issue":"2","key":"10.1016\/j.biocel.2012.04.020_bib0075","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1083\/jcb.105.2.1023","article-title":"Differentiation of axon-related Schwann cells in vitro. I. Ascorbic acid regulates basal lamina assembly and myelin formation","volume":"105","author":"Eldridge","year":"1987","journal-title":"The Journal of Cell Biology"},{"issue":"6","key":"10.1016\/j.biocel.2012.04.020_bib0080","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ng1354","article-title":"Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy","volume":"36","author":"Evgrafov","year":"2004","journal-title":"Nature Genetics"},{"issue":"19","key":"10.1016\/j.biocel.2012.04.020_bib0085","doi-asserted-by":"crossref","first-page":"17281","DOI":"10.1074\/jbc.M111.237685","article-title":"Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies","volume":"286","author":"Fecto","year":"2011","journal-title":"Journal of Biological Chemistry"},{"issue":"7","key":"10.1016\/j.biocel.2012.04.020_bib0090","doi-asserted-by":"crossref","first-page":"e11654","DOI":"10.1371\/journal.pone.0011654","article-title":"Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cells","volume":"5","author":"Goswami","year":"2010","journal-title":"PloS One"},{"issue":"3","key":"10.1016\/j.biocel.2012.04.020_bib0095","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.neuron.2005.06.027","article-title":"The GTPase dMiro is required for axonal transport of mitochondria to Drosophila synapses","volume":"47","author":"Guo","year":"2005","journal-title":"Neuron"},{"issue":"6","key":"10.1016\/j.biocel.2012.04.020_bib0105","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/ng1328","article-title":"Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy","volume":"36","author":"Irobi","year":"2004","journal-title":"Nature Genetics"},{"issue":"2","key":"10.1016\/j.biocel.2012.04.020_bib0230","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/ng1727","article-title":"Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth","volume":"38","author":"Jordanova","year":"2006","journal-title":"Nature Genetics"},{"issue":"21","key":"10.1016\/j.biocel.2012.04.020_bib0110","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1016\/S0960-9822(01)00531-0","article-title":"The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein\u2013dynactin motors","volume":"11","author":"Jordens","year":"2001","journal-title":"Current Biology"},{"issue":"6","key":"10.1016\/j.biocel.2012.04.020_bib0115","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1212\/WNL.0b013e3181cef84a","article-title":"Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach","volume":"74","author":"Kolb","year":"2010","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.biocel.2012.04.020_bib0120","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s10048-009-0183-3","article-title":"Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models","volume":"10","author":"Leal","year":"2009","journal-title":"Neurogenetics"},{"issue":"6","key":"10.1016\/j.biocel.2012.04.020_bib0125","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1093\/hmg\/ddp567","article-title":"Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation","volume":"19","author":"McCray","year":"2010","journal-title":"Human Molecular Genetics"},{"issue":"12","key":"10.1016\/j.biocel.2012.04.020_bib0130","doi-asserted-by":"crossref","first-page":"4232","DOI":"10.1523\/JNEUROSCI.6248-09.2010","article-title":"Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the miro\/milton complex","volume":"30","author":"Misko","year":"2010","journal-title":"Journal of Neuroscience"},{"issue":"12","key":"10.1016\/j.biocel.2012.04.020_bib0135","doi-asserted-by":"crossref","first-page":"e1002399","DOI":"10.1371\/journal.pgen.1002399","article-title":"Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels","volume":"7","author":"Motley","year":"2011","journal-title":"PLoS Genetics"},{"issue":"7","key":"10.1016\/j.biocel.2012.04.020_bib0140","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1083\/jcb.200507087","article-title":"Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease","volume":"170","author":"Niemann","year":"2005","journal-title":"The Journal of Cell Biology"},{"issue":"3","key":"10.1016\/j.biocel.2012.04.020_bib0145","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.nbd.2009.09.011","article-title":"GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance","volume":"36","author":"Niemann","year":"2009","journal-title":"Neurobiology of Disease"},{"issue":"4","key":"10.1016\/j.biocel.2012.04.020_bib0150","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/S1474-4422(11)70025-4","article-title":"Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial","volume":"10","author":"Pareyson","year":"2011","journal-title":"Lancet Neurology"},{"issue":"4","key":"10.1016\/j.biocel.2012.04.020_bib0155","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng1123","article-title":"Mutant dynactin in motor neuron disease","volume":"33","author":"Puls","year":"2003","journal-title":"Nature Genetics"},{"issue":"12","key":"10.1016\/j.biocel.2012.04.020_bib0160","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1136\/jnnp.2008.158295","article-title":"Diagnosis and new treatments in genetic neuropathies","volume":"80","author":"Reilly","year":"2009","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"issue":"46","key":"10.1016\/j.biocel.2012.04.020_bib0165","doi-asserted-by":"crossref","first-page":"19599","DOI":"10.1073\/pnas.0907935106","article-title":"HDAC6 is a target for protection and regeneration following injury in the nervous system","volume":"106","author":"Rivieccio","year":"2009","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"47","key":"10.1016\/j.biocel.2012.04.020_bib0170","doi-asserted-by":"crossref","first-page":"10930","DOI":"10.1523\/JNEUROSCI.2029-05.2005","article-title":"The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA","volume":"25","author":"Saxena","year":"2005","journal-title":"Journal of Neuroscience"},{"issue":"12","key":"10.1016\/j.biocel.2012.04.020_bib0175","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1038\/nm957","article-title":"Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)","volume":"9","author":"Sereda","year":"2003","journal-title":"Nature Medicine"},{"issue":"1\u20132","key":"10.1016\/j.biocel.2012.04.020_bib0180","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1385\/NMM:8:1-2:255","article-title":"Therapeutic strategies for the inherited neuropathies","volume":"8","author":"Shy","year":"2006","journal-title":"Neuromolecular Medicine"},{"issue":"9","key":"10.1016\/j.biocel.2012.04.020_bib0185","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/nrn1196","article-title":"Disease mechanisms in inherited neuropathies","volume":"4","author":"Suter","year":"2003","journal-title":"Nature Reviews Neuroscience"},{"issue":"6","key":"10.1016\/j.biocel.2012.04.020_bib0190","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1083\/jcb.200803153","article-title":"Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant","volume":"185","author":"Tanabe","year":"2009","journal-title":"The Journal of Cell Biology"},{"issue":"2","key":"10.1016\/j.biocel.2012.04.020_bib0195","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.ajhg.2011.07.002","article-title":"Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease","volume":"89","author":"Weedon","year":"2011","journal-title":"The American Journal of Human Genetics"},{"issue":"3","key":"10.1016\/j.biocel.2012.04.020_bib0200","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1313","article-title":"Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome","volume":"36","author":"Windpassinger","year":"2004","journal-title":"Nature Genetics"},{"issue":"4","key":"10.1016\/j.biocel.2012.04.020_bib0205","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/j.cell.2011.11.064","article-title":"Local translation of extranuclear lamin B promotes axon maintenance","volume":"148","author":"Yoon","year":"2012","journal-title":"Cell"},{"issue":"24","key":"10.1016\/j.biocel.2012.04.020_bib0210","doi-asserted-by":"crossref","first-page":"3103","DOI":"10.1093\/hmg\/ddm272","article-title":"Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1","volume":"16","author":"Zhai","year":"2007","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"10.1016\/j.biocel.2012.04.020_bib0215","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/ncpneuro0071","article-title":"Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies","volume":"2","author":"Z\u00fcchner","year":"2006","journal-title":"Nature Clinical Practice Neurology"},{"issue":"3","key":"10.1016\/j.biocel.2012.04.020_bib0220","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng1514","article-title":"Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease","volume":"37","author":"Z\u00fcchner","year":"2005","journal-title":"Nature Genetics"}],"container-title":["The International Journal of Biochemistry &amp; Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1357272512001458?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1357272512001458?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T06:45:52Z","timestamp":1761201952000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1357272512001458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8]]},"references-count":45,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["S1357272512001458"],"URL":"https:\/\/doi.org\/10.1016\/j.biocel.2012.04.020","relation":{},"ISSN":["1357-2725"],"issn-type":[{"value":"1357-2725","type":"print"}],"subject":[],"published":{"date-parts":[[2012,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Charcot-Marie-Tooth disease: Emerging mechanisms and therapies","name":"articletitle","label":"Article Title"},{"value":"The International Journal of Biochemistry & Cell Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.biocel.2012.04.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}